Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1471-2350
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Anmerkungen
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online resource.
- Erschienen in
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Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family ; volume:19 ; number:1 ; day:8 ; month:5 ; year:2018 ; pages:1-5 ; date:12.2018
BMC medical genetics ; 19, Heft 1 (8.5.2018), 1-5, 12.2018
- Urheber
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Elsayed, Liena E. O.
- Beteiligte Personen und Organisationen
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Mohammed, Inaam N.
Hamed, Ahlam A. A.
Elseed, Maha A.
Salih, Mustafa A. M.
Yahia, Ashraf
Siddig, Rayan A.
Amin, Mutaz
Koko, Mahmoud
Elbashir, Mustafa I.
Ibrahim, Muntaser E.
Brice, Alexis
Ahmed, Ammar E.
Stevanin, Giovanni
SpringerLink (Online service)
- DOI
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10.1186/s12881-018-0592-y
- URN
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urn:nbn:de:101:1-2018071323563372057236
- Rechteinformation
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
15.08.2025, 07:32 MESZ
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Beteiligte
- Elsayed, Liena E. O.
- Mohammed, Inaam N.
- Hamed, Ahlam A. A.
- Elseed, Maha A.
- Salih, Mustafa A. M.
- Yahia, Ashraf
- Siddig, Rayan A.
- Amin, Mutaz
- Koko, Mahmoud
- Elbashir, Mustafa I.
- Ibrahim, Muntaser E.
- Brice, Alexis
- Ahmed, Ammar E.
- Stevanin, Giovanni
- SpringerLink (Online service)
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